rs267608154
A SNP in the PMS2 gene on chromosome 7. Its most notable genotype is -;ACAG: Lynch syndrome, pathogenic mutation
- Gene
- PMS2
- Location
- Chr 75,995,573 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;ACAGMost notableBadLynch syndrome, pathogenic mutation
- -;ACAGACAGBadLynch syndrome, pathogenic mutation
- ACAG;ACAGGoodcommon in clinvar
- ACAGACAG;ACAGACAGGoodcommon/normal
On SNPedia: (-;ACAG), (-;ACAGACAG), (ACAG;ACAG), (ACAGACAG;ACAGACAG). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other PMS2 SNPs
- rs3209663G;TLynch syndromeVery important
- rs63750049-;TLynch syndrome, pathogenic mutationVery important
- rs63750106-;TLynch syndrome, pathogenic mutationVery important
- rs63750246-;CALynch syndrome, pathogenic mutationVery important
- rs63750250-;TLynch syndrome, pathogenic mutationVery important
- rs63750261C;TLynch syndromeVery important
- rs63750451C;TLynch syndromeVery important
- rs63750477-;TLynch syndrome, pathogenic mutationVery important
Notes
From SNPedia
Notes
aka c.853_856delACAG and also c.853_856delACAGACAG; both are considered in ClinVar to be pathogenic for Lynch syndrome
-;ACAG
Note: if raw data is DI, exact mutation may be ambiguous.
-;ACAGACAG
Note: if raw data is DI, exact mutation may be ambiguous.
Source and license
Adapted from rs267608154 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.